Zobrazeno 1 - 10
of 237
pro vyhledávání: '"I. Pascual pascual"'
Autor:
A. T. van der Ploeg, M. Ую Kruijshaar, A. Toscano, P. Laforet, C. Angelini, R. H. Lachmann, S. I. Pascual Pascual, M. Roberts, K. Rosler, T. Stulnig, P. A. van Doorn, P.Y. K. Van den Bergh, J. Vissing, B. Schoser
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 4, Pp 19-34 (2019)
Externí odkaz:
https://doaj.org/article/ce2d7bf9e8664d6a848167c86ae07198
Autor:
Andrés Nascimento, Samuel I. Pascual-Pascual, Laura Costa-Comellas, Daniel Natera-de Benito, Maria Josefa Martinez Garcia, M. Fernandez-Garcia, Elena Martínez del Val, Inmaculada Medina Martínez, Óscar García-Campos, Mar García-Romero, María Concepción Miranda-Herrero, Sergio Aguilera-Albesa, Júlia Rúbies Olives, Ramón Cancho-Candela, David Gómez-Andrés
Publikováno v:
Journal of Neurology
Objective Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuro
Publikováno v:
Pediatric neurology. 127
Introduction Lesch-Nyhan disease (LND) is a disease of purine metabolism linked to chromosome X due to the absence or near-absence of enzyme HGPRT. LND patients have a compulsive autoaggressive behaviour that consists on self-mutilation by biting. Ob
Autor:
Samuel I. Pascual-Pascual, Ana Méndez-Echevarría, Francisco Pozo, Inmaculada Casas, Cristina Calvo, Teresa Del Rosal, Carmen Cámara, María Belén Caminoa, Mar García-Romero
Publikováno v:
Viruses, Vol 13, Iss 867, p 867 (2021)
Viruses
Repisalud
Instituto de Salud Carlos III (ISCIII)
Volume 13
Issue 5
Viruses
Repisalud
Instituto de Salud Carlos III (ISCIII)
Volume 13
Issue 5
Background: The impact of respiratory virus infection in patients diagnosed with ataxia-telangiectasia (A-T) has not been well studied. Methods: A prospective case control study was performed at a National Reference Unit for Primary Immunodeficiency
Autor:
Vincenzo Lupo, Paula Sancho, Olivia Miossec, Marina L. Kennerson, Luca Bartesaghi, Laura Ramírez-Jiménez, Francisco García-García, Elisabet Åkesson, Anna Siddell, Carmen Espinós, Eva Hedlund, Teresa Sevilla, Samuel I. Pascual-Pascual, Petra Laššuthová, Roman Chrast
Publikováno v:
Human Molecular Genetics. 28:1629-1644
Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in MORC2, indicating that this gene is frequently involved in axonal CMT cases. While the genetic data
Autor:
Samuel I. Pascual-Pascual, Vincenzo Lupo, Carmen Espinós, John Svaren, Sneha S. Komath, Teresa Sevilla, Megan S Schnitzler, Seongsik Won, Marina Frasquet
Publikováno v:
EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
BACKGROUND AND PURPOSE Mutations in the early growth response 2 gene (EGR2) cause demyelinating, but also axonal, neuropathies differing in severity and age of onset. Except for one family, all reported cases have autosomal dominant inheritance and m
Autor:
P. Castro-de Castro, Samuel I. Pascual-Pascual, A. Jiménez-de Domingo, E. Barredo-Valderrama, M.C. Miranda-Herrero, N. Gil-Villanueva, A.J. Alcaraz-Romero, M Vázquez-López
Publikováno v:
Neurología, Vol 32, Iss 9, Pp 602-609 (2017)
Resumen: Introducción: Los ictus isquémicos son poco frecuentes en la infancia. Las cardiopatías tanto congénitas como adquiridas son uno de los factores de riesgo más importante para presentar un ictus en la edad pediátrica. Pacientes y métod
Autor:
A.J. Alcaraz-Romero, M.C. Miranda-Herrero, P. Castro-de Castro, Samuel I. Pascual-Pascual, E. Barredo-Valderrama, M Vázquez-López, A. Jiménez-de Domingo, N. Gil-Villanueva
Publikováno v:
Neurología (English Edition), Vol 32, Iss 9, Pp 602-609 (2017)
Introduction: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children. Patients and methods: We conducted a retrospective study of al
Autor:
Samuel I. Pascual-Pascual, María Concepción Miranda-Herrero, Almudena Chacón-Pascual, Pedro Castro de Castro, E. Barredo-Valderrama, M Vázquez-López
Publikováno v:
Early Human Development. 161:105454
Background Preterm children obtain worse scores in tests that evaluate visuospatial functions. Pascual's graphomotor test (PGMt) assesses maturity in copying drawings in childhood, quickly evaluating the graphomotor aptitude that is a partial aspect
Autor:
Carmen Palma, Milla, Carmen Prior, De Castro, Clara, Gómez-González, Paloma, Martínez-Montero, Samuel I, Pascual Pascual, Jesús, Molano Mateos
Publikováno v:
Journal of genetics. 98
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the